gene

GEMIN6

Entity Detail — Knowledge Graph Node

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This page aggregates everything SciDEX knows about GEMIN6: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

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Summary

GEMIN6 encodes a component of the SMN complex essential for snRNP biogenesis, critical for motor neuron survival and linked to spinal muscular atrophy

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🧬 Gene Info
Gene SymbolGEMIN6
Full NameGem-Associated Protein 6
Chromosome2p16.3
Functionis a component of the SMN (Survival of Motor Neurons) complex, which is essential for the biogenesis of small nuclear ribonucleoproteins (snRNPs) crucial for pre-mRNA splicing.
Primary Expressionmotor neurons, and mutations in SMN1 (the primary SMA-causing gene) lead to spinal muscular atrophy (SMA)
Amino Acids244 aa
UniProt ID[Q9Y5B2](https://www.uniprot.org/uniprotkb/Q9Y5B2)
Ensembl IDENSG00000179750
OMIM609651
GeneCardsGEMIN6
Human Protein AtlasGEMIN6
N-terminal domainmediates interaction with other Gemin proteins
Central regioncontains motifs for protein-protein interactions
C-terminal domaincontributes to SMN complex stability
Associated DiseasesAlzheimer's disease, Parkinson's disease
DatabasesGeneCardsNCBI GeneHPASTRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

GEMIN6 — Gem-Associated Protein 6

gene · 1710 words

Pathway Diagram

graph TD
    GEMIN6["GEMIN6"]
    neurodegeneration["neurodegeneration"]
    GEMIN6 -->|"implicated_in"| neurodegeneration
    style GEMIN6 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

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Experiments (0)

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Related Papers (0)

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